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Hypokinetic-rigid syndrome in children and inborn errors of metabolism

A García-Cazorla1, C Ortez, B Pérez-Dueñas

  • 1Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Deu 2, 08950 Esplugues, Barcelona, Spain.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|May 27, 2011
PubMed

Insights

Hypokinetic-rigid syndrome (HRS), or parkinsonism, is uncommon in children. This review guides pediatric neurologists in diagnosing and treating metabolic causes of HRS, highlighting specific genetic conditions and therapeutic approaches.

Area of Science:

  • Pediatric Neurology
  • Metabolic Disorders
  • Neurodegenerative Diseases

Background:

  • Hypokinetic-rigid syndrome (HRS), characterized by hypokinesia, bradykinesia, rigidity, and tremor, is rare in children.
  • Acquired causes include infections, encephalitis, hypoxia, and drugs; genetic causes primarily involve inborn errors of metabolism (IEM).
  • IEM-related HRS often presents with other neurological signs and may improve with targeted therapies.

Purpose of the Study:

  • To provide pediatric neurologists with a practical guide for the clinical approach to metabolic HRS.
  • To outline diagnostic procedures and treatment strategies for HRS in children.
  • To review genetic causes of both dopa-responsive and non-responsive HRS.

Main Methods:

  • Review of literature on pediatric hypokinetic-rigid syndrome.
  • Focus on inborn errors of metabolism as a significant cause of genetic HRS.
  • Discussion of clinical presentation, diagnostic workup, and therapeutic options.

Main Results:

  • Key metabolic diseases causing HRS include neurotransmitter defects, metal storage diseases, energy metabolism disorders, and lysosomal diseases.
  • Treatment varies, with l-dopa + carbidopa effective for neurotransmitter defects; other conditions like Wilson disease require different interventions.
  • Genetic factors are crucial, especially in juvenile parkinsonism, necessitating consideration of dopa-responsive and non-responsive conditions.

Conclusions:

  • Metabolic disorders are an important genetic cause of HRS in children.
  • Early diagnosis and specific treatments, such as l-dopa, can significantly impact outcomes.
  • A comprehensive approach considering various genetic conditions is essential for managing pediatric parkinsonism.

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